ZNF592

Summary

ZNF592 (zinc finger protein 592, HGNC:28986) is a protein-coding gene on chromosome 15q25.3, encoding Zinc finger protein 592 (Q92610). May be involved in transcriptional regulation.

This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in cerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia.

Source: NCBI Gene 9640 — RefSeq curated summary.

At a glance

• Gene–disease (curated): cerebellar ataxia (Limited, GenCC)
• GWAS associations: 13
• Clinical variants (ClinVar): 225 total
• Phenotypes (HPO): 15
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_014630

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28986
Approved symbol	ZNF592
Name	zinc finger protein 592
Location	15q25.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0211, CAMOS
Ensembl gene	ENSG00000166716
Ensembl biotype	protein_coding
OMIM	613624
Entrez	9640

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000299927, ENST00000559607, ENST00000560079, ENST00000618477, ENST00000877250, ENST00000877251, ENST00000877252, ENST00000877253, ENST00000877254

RefSeq mRNA: 1 — MANE Select: NM_014630 NM_014630

CCDS: CCDS32317

Canonical transcript exons

ENST00000560079 — 11 exons

Exon	Start	End
ENSE00001105895	84790705	84790883
ENSE00002538276	84782657	84784895
ENSE00002548999	84778183	84778312
ENSE00002553293	84801863	84806445
ENSE00002553930	84764707	84764815
ENSE00002555071	84748592	84748664
ENSE00003533064	84799098	84799210
ENSE00003552685	84798315	84798474
ENSE00003640280	84798588	84798875
ENSE00003654939	84797869	84798045
ENSE00003688211	84799842	84799977

Expression profiles

Bgee: expression breadth ubiquitous, 241 present calls, max score 95.37.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.0846 / max 162.8225, expressed in 1814 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
148145	18.0746	1809
148144	6.0567	1680
148143	0.9532	471

Top tissues by expression

253 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	95.37	gold quality
epithelial cell of pancreas	CL:0000083	93.40	gold quality
tibialis anterior	UBERON:0001385	93.25	gold quality
ileal mucosa	UBERON:0000331	90.98	gold quality
gastrocnemius	UBERON:0001388	90.44	gold quality
muscle of leg	UBERON:0001383	89.98	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.70	gold quality
skeletal muscle organ	UBERON:0014892	87.64	gold quality
bone marrow cell	CL:0002092	87.19	gold quality
granulocyte	CL:0000094	87.15	gold quality
blood	UBERON:0000178	86.74	gold quality
sural nerve	UBERON:0015488	85.06	gold quality
deltoid	UBERON:0001476	84.94	silver quality
leukocyte	CL:0000738	84.73	gold quality
islet of Langerhans	UBERON:0000006	84.65	gold quality
monocyte	CL:0000576	84.39	gold quality
stromal cell of endometrium	CL:0002255	84.36	gold quality
apex of heart	UBERON:0002098	83.73	gold quality
popliteal artery	UBERON:0002250	83.68	gold quality
tibial artery	UBERON:0007610	83.65	gold quality
vermiform appendix	UBERON:0001154	83.60	gold quality
aorta	UBERON:0000947	83.37	gold quality
descending thoracic aorta	UBERON:0002345	83.18	gold quality
thoracic aorta	UBERON:0001515	83.10	gold quality
mucosa of stomach	UBERON:0001199	83.07	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	83.06	gold quality
ascending aorta	UBERON:0001496	83.03	gold quality
kidney epithelium	UBERON:0004819	82.89	silver quality
ventricular zone	UBERON:0003053	82.85	gold quality
oviduct epithelium	UBERON:0004804	82.79	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

203 targeting ZNF592, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-103A-3P	99.98	69.14	1595

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 2)

• plasma membrane protein SCARA5 can contribute to human hepatocellular carcinoma (HCC) tumorigenesis and metastasis via activation of the FAK signaling pathway. (PMID:20038795)
• ZNF592 is idenified as the gene responsible for Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities, a rare, nonprogressive, cerebellar ataxia syndrome. (PMID:20531441)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf592	ENSDARG00000060885
mus_musculus	Zfp592	ENSMUSG00000005621
rattus_norvegicus	Zfp592	ENSRNOG00000060206

Paralogs (51): WIZ (ENSG00000011451), ZNF416 (ENSG00000083817), MYNN (ENSG00000085274), PRDM4 (ENSG00000110851), PRDM2 (ENSG00000116731), ZBTB17 (ENSG00000116809), ZNF644 (ENSG00000122482), GZF1 (ENSG00000125812), ZNF426 (ENSG00000130818), ZNF287 (ENSG00000141040), ZNF697 (ENSG00000143067), ZNF687 (ENSG00000143373), ZNF214 (ENSG00000149050), ZNF547 (ENSG00000152433), ZNF776 (ENSG00000152443), ZNF230 (ENSG00000159882), ZNF222 (ENSG00000159885), ZNF233 (ENSG00000159915), ZNF333 (ENSG00000160961), ZNF319 (ENSG00000166188), ZNF646 (ENSG00000167395), ZNF507 (ENSG00000168813), ZNF768 (ENSG00000169957), ZNF417 (ENSG00000173480), ZNF408 (ENSG00000175213), ZBTB41 (ENSG00000177888), ZNF223 (ENSG00000178386), ZNF852 (ENSG00000178917), ZNF784 (ENSG00000179922), ZNF572 (ENSG00000180938), ZNF707 (ENSG00000181135), ZNF746 (ENSG00000181220), ZNF467 (ENSG00000181444), ZNF530 (ENSG00000183647), ZNF17 (ENSG00000186272), ZNF527 (ENSG00000189164), ZKSCAN7 (ENSG00000196345), ZNF34 (ENSG00000196378), ZNF774 (ENSG00000196391), ZNF777 (ENSG00000196453)

Protein

Protein identifiers

Zinc finger protein 592 — Q92610 (reviewed: Q92610)

All UniProt accessions (2): Q92610, H0YM74

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subunit / interactions. Interacts with ZMYND8.

Subcellular location. Nucleus.

Tissue specificity. Widely expressed, with highest levels in skeletal muscle. Expressed throughout the central nervous system, including in the cerebellum and cerebellar vermis, with higher expression in the substantia nigra. Widely expressed in fetal tissues.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

RefSeq proteins (1): NP_055445* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR041697	Znf-C2H2_11	Domain
IPR045914	Zn532-like	Family
IPR057356	Znf-C2H2_ZNF592	Domain

Pfam: PF16622, PF25412

UniProt features (44 total): zinc finger region 13, modified residue 11, region of interest 7, compositionally biased region 7, cross-link 3, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92610-F1	54.79	0.00

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (14): 78, 142, 145, 146, 529, 573, 689, 691, 1089, 1205, 1250, 202, 206, 546

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9940951	Interaction of NuRD complexes with transcription factors

MSigDB gene sets: 165 (showing top): MORF_RAGE, MORF_FLT1, MORF_MSH3, MORF_ATRX, MORF_ESR1, MORF_PPP5C, MORF_FANCG, MORF_PML, MORF_IKBKG, MORF_MT4, MORF_PRKACA, MORF_MYC, MORF_RBM8A, MODULE_13, MORF_HEAB

GO Biological Process (2): negative regulation of insulin receptor signaling pathway (GO:0046627), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (7): DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), PH domain binding (GO:0042731), insulin receptor substrate binding (GO:0043560), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (1): nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
NuRD complex assembly	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
insulin receptor signaling pathway	1
negative regulation of signal transduction	1
regulation of insulin receptor signaling pathway	1
negative regulation of cellular response to insulin stimulus	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
regulation of DNA-templated transcription	1
transcription regulator activity	1
transition metal ion binding	1
protein domain specific binding	1
protein binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1581 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF592	ZMYND8	Q9ULU4	965
ZNF592	SPTBN2	O15020	818
ZNF592	ZNF687	Q8N1G0	749
ZNF592	BRD3	Q15059	657
ZNF592	ZNF532	Q9HCE3	612
ZNF592	NUTM1	Q86Y26	507
ZNF592	CYCS	P00001	495
ZNF592	CCNT1	O60563	494
ZNF592	ZNF536	O15090	490
ZNF592	ARHGEF33	A8MVX0	480
ZNF592	ALPK3	Q96L96	479
ZNF592	ZNF217	O75362	462
ZNF592	QTMAN	Q4AE62	458
ZNF592	WDR73	Q6P4I2	454
ZNF592	NSD3	Q9BZ95	448

IntAct

60 interactions, top by confidence:

A	B	Type	Score
CSNK2A1	EIF3J	psi-mi:“MI:0914”(association)	0.810
CSNK2A2	EIF3J	psi-mi:“MI:0914”(association)	0.790
MED23	MED19	psi-mi:“MI:2364”(proximity)	0.770
HDAC1	ZNF609	psi-mi:“MI:0914”(association)	0.730
MBD3	CDK2AP1	psi-mi:“MI:0914”(association)	0.730
CSNK2B	RPS6KA5	psi-mi:“MI:0914”(association)	0.660
P4HA3	FAM171A2	psi-mi:“MI:0914”(association)	0.640
CSNK2B	RPS6KA4	psi-mi:“MI:0914”(association)	0.640
ZNF592	TCAF1	psi-mi:“MI:0915”(physical association)	0.560
TCAF1	ZNF592	psi-mi:“MI:0915”(physical association)	0.560
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
ZNF408	LRP4	psi-mi:“MI:0914”(association)	0.530
RPS3	ZNF316	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
ZNF592	SMAD9	psi-mi:“MI:0915”(physical association)	0.370
KDM5C	CSNK2A1	psi-mi:“MI:0914”(association)	0.350
ZMYND8	MTA3	psi-mi:“MI:0914”(association)	0.350
ZNF687	DDX24	psi-mi:“MI:0914”(association)	0.350
HDAC1	TRAK1	psi-mi:“MI:0914”(association)	0.350
JUN		psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ZNF408		psi-mi:“MI:0914”(association)	0.350
GATAD2A	CDK2AP1	psi-mi:“MI:0914”(association)	0.350
LLGL2	NKTR	psi-mi:“MI:0914”(association)	0.350
CSNK2A2	CNOT1	psi-mi:“MI:0914”(association)	0.350

BioGRID (98): FAM115A (Two-hybrid), ZNF592 (Affinity Capture-MS), ZNF592 (Proximity Label-MS), ZNF592 (Biochemical Activity), ZNF592 (Affinity Capture-MS), ZNF592 (Affinity Capture-MS), ZNF592 (Affinity Capture-MS), ZNF592 (Affinity Capture-MS), ZNF592 (Affinity Capture-MS), ZNF592 (Affinity Capture-MS), ZNF592 (Affinity Capture-MS), ZNF592 (Affinity Capture-MS), ZNF592 (Affinity Capture-MS), ZNF592 (Affinity Capture-MS), ZNF592 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IYX6, A0A1L8H0H2, A5X7A0, A7XYJ6, E1BE02, F6NSX9, F8VPJ6, O35914, O57415, P37275, P59598, P59759, Q03172, Q13029, Q2KHR2, Q3UH06, Q5EXX3, Q5R7F2, Q5ZIE8, Q5ZLR2, Q62947, Q63755, Q64318, Q6NRM0, Q6ZPY7, Q76L83, Q7LBC6, Q7YR76, Q80VX4, Q86V15, Q8BHZ4, Q8BLG0, Q8BRH4, Q8BX22, Q8BZ32, Q8C0C0, Q8IZQ8, Q8NEZ4, Q8R5I7, Q8VIM5

Diamond homologs: A0A0R4IYX6, F6NSX9, Q6NXK2, Q8BHZ4, Q8N1G0, Q92610, Q9D2D7, Q9HCE3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 77 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Transcriptional regulation of brown and beige adipocyte differentiation by EBF2	5	38.8×	1e-05
Regulation of PTEN gene transcription	8	29.1×	8e-08
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	8	23.9×	2e-07
PTEN Regulation	5	23.3×	9e-05
RNA Polymerase I Transcription Initiation	5	22.9×	9e-05
Interaction of NuRD complexes with transcription factors	8	20.7×	4e-07
NuRD complex assembly	7	20.1×	4e-06
Adipogenesis	5	16.0×	3e-04

GO biological processes:

GO term	Partners	Fold	FDR
regulation of stem cell differentiation	5	58.0×	5e-06
chromatin remodeling	8	8.8×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

225 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	185
Likely benign	19
Benign	9

Top pathogenic / likely-pathogenic (0)

SpliceAI

2372 predictions. Top by Δscore:

Variant	Effect	Δscore
15:84782649:T:TA	acceptor_gain	1.0000
15:84782652:TACA:T	acceptor_loss	1.0000
15:84782652:TACAG:T	acceptor_gain	1.0000
15:84782654:C:G	acceptor_gain	1.0000
15:84782655:A:AC	acceptor_loss	1.0000
15:84782655:A:AG	acceptor_gain	1.0000
15:84782656:G:GT	acceptor_gain	1.0000
15:84782656:GC:G	acceptor_gain	1.0000
15:84782656:GCC:G	acceptor_gain	1.0000
15:84782656:GCCC:G	acceptor_gain	1.0000
15:84782656:GCCCT:G	acceptor_gain	1.0000
15:84782757:G:GT	donor_gain	1.0000
15:84798046:G:GG	donor_gain	1.0000
15:84798560:A:AG	acceptor_gain	1.0000
15:84798561:G:GG	acceptor_gain	1.0000
15:84798561:GTCA:G	acceptor_gain	1.0000
15:84798586:A:AG	acceptor_gain	1.0000
15:84798587:G:GG	acceptor_gain	1.0000
15:84798587:GA:G	acceptor_gain	1.0000
15:84798871:GTCGG:G	donor_gain	1.0000
15:84799084:A:AG	acceptor_gain	1.0000
15:84799085:C:G	acceptor_gain	1.0000
15:84799093:CTTA:C	acceptor_loss	1.0000
15:84799095:TA:T	acceptor_loss	1.0000
15:84799096:A:AC	acceptor_loss	1.0000
15:84799096:A:AG	acceptor_gain	1.0000
15:84799097:G:GA	acceptor_gain	1.0000
15:84799097:GA:G	acceptor_gain	1.0000
15:84799097:GAC:G	acceptor_gain	1.0000
15:84799097:GACA:G	acceptor_gain	1.0000

AlphaMissense

8372 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:84782695:C:A	P7Q	1.000
15:84782700:T:C	F9L	1.000
15:84782701:T:G	F9C	1.000
15:84782702:T:A	F9L	1.000
15:84782702:T:G	F9L	1.000
15:84782704:A:T	D10V	1.000
15:84782707:A:G	D11G	1.000
15:84782710:T:C	L12P	1.000
15:84782713:T:C	L13P	1.000
15:84782721:T:C	F16L	1.000
15:84782723:T:A	F16L	1.000
15:84782723:T:G	F16L	1.000
15:84782728:T:C	I18T	1.000
15:84783805:T:A	I377N	1.000
15:84783805:T:C	I377T	1.000
15:84783805:T:G	I377S	1.000
15:84784440:T:C	C589R	1.000
15:84784442:C:G	C589W	1.000
15:84784449:T:C	C592R	1.000
15:84784461:T:C	F596L	1.000
15:84784462:T:C	F596S	1.000
15:84784463:T:A	F596L	1.000
15:84784463:T:G	F596L	1.000
15:84784524:T:C	C617R	1.000
15:84784526:C:G	C617W	1.000
15:84784812:T:C	C713R	1.000
15:84790708:T:C	C742R	1.000
15:84790717:T:C	C745R	1.000
15:84790718:G:A	C745Y	1.000
15:84790719:C:G	C745W	1.000

dbSNP variants (sampled 300 via entrez): RS1000096954 (15:84785625 T>C), RS1000124976 (15:84775869 G>A), RS1000303277 (15:84762455 G>A), RS1000304438 (15:84802490 G>C), RS1000308352 (15:84756743 T>A), RS1000316277 (15:84799049 A>C), RS1000353109 (15:84769457 A>T), RS1000440262 (15:84762883 C>T), RS1000478033 (15:84782078 G>C), RS1000488818 (15:84786573 C>T), RS1000526805 (15:84768196 C>G), RS1000576283 (15:84761870 A>G), RS1000607612 (15:84748242 C>G,T), RS1000618291 (15:84756516 C>G), RS1000667908 (15:84750235 G>A,C)

Disease associations

OMIM: gene MIM:613624 | disease phenotypes: MIM:251300, MIM:142623

GenCC curated gene-disease

Disease	Classification	Inheritance
cerebellar ataxia	Limited	Autosomal recessive

Mondo (3): Galloway-Mowat syndrome 1 (MONDO:0033005), Hirschsprung disease (MONDO:0018309), cerebellar ataxia (MONDO:0000437)

Orphanet (3): Galloway-Mowat syndrome (Orphanet:2065), CAMOS syndrome (Orphanet:83472), Hirschsprung disease (Orphanet:388)

HPO phenotypes

15 total (15 of 15 shown, HPO-id order):

HPO	Term
HP:0000083	Renal insufficiency
HP:0000100	Nephrotic syndrome
HP:0000252	Microcephaly
HP:0000648	Optic atrophy
HP:0000951	Abnormality of the skin
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001260	Dysarthria
HP:0001270	Motor delay
HP:0007153	Progressive extrapyramidal movement disorder
HP:0007360	Aplasia/Hypoplasia of the cerebellum
HP:0012444	Brain atrophy

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST001280_12	Alzheimer’s disease (age of onset)	9.000000e-06
GCST001280_6	Alzheimer’s disease (age of onset)	9.000000e-06
GCST004521_253	Autism spectrum disorder or schizophrenia	6.000000e-11
GCST006803_69	Schizophrenia	9.000000e-10
GCST008103_25	Bipolar disorder	3.000000e-08
GCST010796_4978	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-09
GCST010796_4979	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-08
GCST010796_4980	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST011010_15	Electrocardiographic traits (multivariate)	5.000000e-09
GCST011102_17	Bipolar disorder	7.000000e-09
GCST011205_2	Hypertrophic cardiomyopathy (MTAG)	1.000000e-16
GCST011211_13	Hypertrophic cardiomyopathy	8.000000e-12
GCST012465_54	Bipolar disorder	5.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004847	age at onset
EFO:0004327	electrocardiography

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D002524	Cerebellar Ataxia	C10.228.140.252.190; C10.597.350.090.500; C23.888.592.350.090.200
D006627	Hirschsprung Disease	C06.198.439; C06.405.469.158.701.439; C16.131.314.439

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, affects cotreatment, decreases expression, increases abundance	3
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression	3
Arsenic	affects cotreatment, decreases expression, increases abundance	2
FR900359	increases phosphorylation	1
TAK-243	decreases sumoylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
butyraldehyde	decreases expression	1
coumarin	increases phosphorylation	1
methacrylaldehyde	affects cotreatment, increases oxidation	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
Sunitinib	increases expression	1
Fulvestrant	increases methylation	1
Acrolein	affects cotreatment, increases oxidation	1
Amiodarone	increases expression	1
Cadmium	decreases expression, increases abundance	1
Caffeine	increases phosphorylation	1
Cisplatin	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Hydralazine	affects cotreatment, increases expression	1
Ozone	affects cotreatment, increases oxidation	1
Urethane	increases expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

198 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00950196	PHASE4	COMPLETED	Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia
NCT04107740	PHASE4	COMPLETED	C-Trelin Orally Disintegrated(OD) Tablet 5mg in Ataxia Due to Spinocerebellar Degeneration
NCT02343562	PHASE4	UNKNOWN	Probiotics for Prophylaxis of Postoperative Hirschsprungs Associated Enterocolitis
NCT07186647	PHASE4	COMPLETED	Laparoscopic-Assisted Transanal Pull-Through for Hirschsprung Disease in Pediatric:Short and Intermediate Outcomes of Two Different Techniques
NCT01970098	PHASE3	COMPLETED	A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970111	PHASE3	COMPLETED	An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970124	PHASE3	COMPLETED	A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970137	PHASE3	COMPLETED	A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT02889302	PHASE3	COMPLETED	An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT03408080	PHASE3	ACTIVE_NOT_RECRUITING	Open Pilot Trial of BHV-4157
NCT03701399	PHASE3	ACTIVE_NOT_RECRUITING	Troriluzole in Adult Participants With Spinocerebellar Ataxia
NCT03901638	PHASE3	TERMINATED	Tllsh2910 for Ataxia and Gut Microbiota Alteration in Patients of Multiple System Atrophy
NCT07040137	PHASE3	RECRUITING	Confirmatory Study 3 of KPS-0373 in Patients With Spinocerebellar Degeneration
NCT03660176	PHASE3	UNKNOWN	Effects of Butyrate Enemas on Postoperative Intestinal Mobility Disorders in Hirschsprung’s Disease
NCT04904081	PHASE3	UNKNOWN	Feasibility of Use of Indocyanine Green in Pediatric Colorectal Surgery
NCT00034242	PHASE2	COMPLETED	High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration
NCT00202397	PHASE2	COMPLETED	Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia
NCT00863538	PHASE2	COMPLETED	Phase II Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01004016	PHASE2	COMPLETED	A Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01350440	PHASE2	COMPLETED	Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia
NCT02540655	PHASE2	COMPLETED	Efficacy and Safety Study of Stemchymal® in Polyglutamine Spinocerebellar Ataxia
NCT03932669	PHASE2	COMPLETED	Effect of Nilotinib in Cerebellar Ataxia Patients
NCT04301284	PHASE2	WITHDRAWN	Study of CAD-1883 for Spinocerebellar Ataxia
NCT05125666	PHASE2	UNKNOWN	Efficacy of Dual Task Training on Children With Ataxia After Medulloblastoma Resection
NCT06397274	PHASE2	NOT_YET_RECRUITING	Stemchymal® for Polyglutamine Spinocerebellar Ataxia
NCT00630838	PHASE2	COMPLETED	Probiotic Prophylaxis of Hirschprung’s Disease Associated Enterocolitis (HAEC)
NCT00683943	PHASE1	COMPLETED	Lithium Treatment for Patients With Spinocerebellar Ataxia Type I
NCT02287064	PHASE1	UNKNOWN	An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar Ataxias
NCT05157802	PHASE1	ACTIVE_NOT_RECRUITING	Promoting Physical Activity Engagement for People With Early-stage Cerebellar Ataxia
NCT01104649	PHASE2/PHASE3	COMPLETED	Efficacy of Riluzole in Hereditary Cerebellar Ataxia
NCT02960893	PHASE2/PHASE3	COMPLETED	Trial in Adult Participants With Spinocerebellar Ataxia (SCA)
NCT00244361	PHASE1/PHASE2	COMPLETED	Effectiveness of Rituximab in Pediatric OMS Patients.
NCT01649687	PHASE1/PHASE2	COMPLETED	Treatment of Cerebellar Ataxia With Mesenchymal Stem Cells
NCT01958177	PHASE1/PHASE2	UNKNOWN	Clinical Study to Evaluate the Safety and Efficacy BMMNC in Cerebellar Ataxia
NCT02829268	PHASE1/PHASE2	COMPLETED	A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome
NCT00001324	Not specified	COMPLETED	PET Scan to Study Brain Control of Human Movement
NCT00006492	Not specified	COMPLETED	Gluten-Free Diet in Patients With Gluten Sensitivity and Cerebellar Ataxia
NCT00136630	Not specified	COMPLETED	Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations
NCT00140829	Not specified	COMPLETED	SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
NCT00272272	Not specified	COMPLETED	Fall Prevention in a Geriatric Nursing Home Setting Using the Music of Nolwenn Leroy